Alpha 1-antitrypsin-deficient variant Siiyama (Ser53[TCC] to Phe53[TTC]) is prevalent in Japan. Status of alpha 1-antitrypsin deficiency in Japan.
Seyama K, Nukiwa T, Souma S, Shimizu K, Kira S.
Seyama K, et al.
Am J Respir Crit Care Med. 1995 Dec;152(6 Pt 1):2119-26. doi: 10.1164/ajrccm.152.6.8520784.
Am J Respir Crit Care Med. 1995.
PMID: 8520784
The amino acid substitution in this variant occurs in a highly conserved residue of the serpin (serine protease inhibitor) backbone (Seyama K, et al. 1991. J. Biol. Chem. 266:12627-12632). We attempted to determine whether alpha 1-AT deficiency in Japan was caused b …
The amino acid substitution in this variant occurs in a highly conserved residue of the serpin (serine protease inhibitor) backbone (Seya …